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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Histiocytosis (D015614)
Parent Node: Lung Diseases, Interstitial (D017563)
..Starting node ..Histiocytosis, Langerhans-Cell (D006646)
Child Nodes:
........Eosinophilic Granuloma (D004803)
........Familial Letterer-Siwe disease (C538636)
........Hashimoto-Pritzker syndrome (C535843)
Sister Nodes:
..Alveolitis, Extrinsic Allergic (D000542) 5
..Anti-Glomerular Basement Membrane Disease (D019867)
..Granulomatosis with Polyangiitis (D014890) 2
..Histiocytosis, Langerhans-Cell (D006646) 3
..Idiopathic Interstitial Pneumonias (D054988) 2
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Lymphoid Interstitial Pneumonia (C562489)
..Pneumoconiosis (D011009) 13
..Radiation Pneumonitis (D017564)
..Sarcoidosis, Pulmonary (D017565)
..Surfactant Dysfunction (C580477)
..Surfactant Metabolism Dysfunction, Pulmonary, 1 (C566882)
..Surfactant Metabolism Dysfunction, Pulmonary, 2 (C567048)
..Surfactant Metabolism Dysfunction, Pulmonary, 3 (C567046)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5218
Name:	Histiocytosis, Langerhans-Cell
Definition:	A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder.
Alternative IDs:
ParentIDs:	MESH:D015614\|MESH:D017563
TreeNumbers:	C08.381.483.375 \|C15.604.250.400
Synonyms:	Aleukemic Reticuloendothelioses, Systemic \|Aleukemic Reticuloendotheliosis, Systemic \|Cell Granulomatoses, Langerhans \|Cell Granulomatosis, Langerhans \|Cell Histiocytoses, Langerhans \|Cell Histiocytosis, Langerhans \|Disease, Hand-Schueller-Christian \|Disease, H
Slim Mappings:	Lymphatic disease\|Respiratory tract disease
Reference:	MedGen: D006646 MeSH: D006646 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants